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Congenital cataract

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https://www.readbyqxmd.com/read/28107085/registry-of-ocular-anomalies-among-patients-with-genetic-disorders-attending-the-clinical-genetics-department-at-the-national-research-centre-in-egypt
#1
Ola M Eid, Sawsan Abdel Hady, Ahmed El-Kotoury, Khalda A Said, Karima Rafat, Hala T El-Bassyouni
BACKGROUND: The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is very important. The aim of this study is to evaluate the frequency and types of congenital ocular anomalies among patients with genetic disorders. PATIENTS AND METHODS: This is a retrospective study that was conducted in the National Research Center, Egypt at the Clinical Genetics Department over a 4-year period...
January 20, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28091778/hospital-based-surveillance-of-congenital-rubella-syndrome-in-indonesia
#2
Elisabeth Siti Herini, Gunadi, Agung Triono, Asal Wahyuni Erlin Mulyadi, Niprida Mardin, Rusipah, Yati Soenarto, Susan E Reef
: Congenital rubella syndrome (CRS) has serious consequences, such as miscarriage, stillbirth, and severe birth defects in infants, resulting from rubella virus infection during pregnancy. However, rubella vaccine has not yet been implemented in Indonesia. This study aimed (1) to estimate the incidence of CRS in Indonesia, (2) describe the clinical features of CRS at our referral hospital, and (3) pilot a CRS surveillance system to be extended to other hospitals. We conducted a 4-month prospective surveillance study of infants aged <1 year with suspected CRS in 2013 at an Indonesian hospital...
January 13, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28076398/identification-of-a-novel-mutation-in-brd4-that-causes-autosomal-dominant-syndromic-congenital-cataracts-associated-with-other-neuro-skeletal-anomalies
#3
Hyun-Seok Jin, Jeonhyun Kim, Woori Kwak, Hyeonsoo Jeong, Gyu-Bin Lim, Cha Gon Lee
Congenital cataracts can occur as a non-syndromic isolated ocular disease or as a part of genetic syndromes accompanied by a multi-systemic disease. Approximately 50% of all congenital cataract cases have a heterogeneous genetic basis. Here, we describe three generations of a family with an autosomal dominant inheritance pattern and common complex phenotypes, including bilateral congenital cataracts, short stature, macrocephaly, and minor skeletal anomalies. We did not find any chromosomal aberrations or gene copy number abnormalities using conventional genetic tests; accordingly, we conducted whole-exome sequencing (WES) to identify disease-causing genetic alterations in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28061824/a-novel-nhs-mutation-causes-nance-horan-syndrome-in-a-chinese-family
#4
Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin, Qian Pan
BACKGROUND: Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. METHODS: Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome...
January 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28059152/identification-of-a-novel-missense-mutation-of-mip-in-a-chinese-family-with-congenital-cataracts-by-target-region-capture-sequencing
#5
Bo Jiang, Yanhua Chen, Baisheng Xu, Nan Hong, Rongrong Liu, Ming Qi, Liping Shen
Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heterozygous missense mutation c.634G > C (p.G212R) substitution was identified in the MIP gene through target region capture sequencing. The prediction results of PolyPhen-2 and SIFT indicated that this mutation was likely to damage the structure and function of MIP...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28042714/current-status-of-iol-implantation-in-pediatric-eyes-an-update
#6
Abhay R Vasavada, Vaishali Vasavada
Pediatric cataracts are a huge problem worldwide, and with improving techniques and technology, the surgical treatment and postoperative visual rehabilitation are improving. Despite intraocular lenses(IOLs) being the standard of care for adult cataract surgery, this issue is still somewhat controversial, particularly in young children and infants due to lack of unequivocal evidence. This review therefore summarises the findings from recent studies on the aspect of IOL implantation in pediatric eyes. Areas covered: An extensive literature search was undertaken for published articles on congenital/developmental pediatric cataracts, and IOL implantation, where literature pertinent to traumatic and subluxated cataracts was not included in the review...
January 2, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28025620/a-novel-crybb2-stopgain-mutation-causing-congenital-autosomal-dominant-cataract-in-a-chinese-family
#7
Yu Zhou, Yaru Zhai, Lulin Huang, Bo Gong, Jie Li, Fang Hao, Zhengzheng Wu, Yi Shi, Yin Yang
Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples...
2016: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28007594/the-p20r-mutation-of-%C3%AE-b-crystallin-diminishes-its-anti-apoptotic-activity-in-human-lens-epithelial-cells
#8
Peiran Zhu, Weiwei Li, Mengxia Ni, Cui Zhang, Shuaimei Liu, Qiuyue Wu, Weijun Jiang, Jing Zhang, Mingchao Zhang, Xiaojun Li, Yingxia Cui, Chunyan Xue, Xinyi Xia
αB-crystallin acts as an anti-apoptosis protein in human lens epithelial (HLE) cells. We recently identified a missense mutation in αB-crystallin that changes proline 20 to an arginine (P20R) in a Chinese family with autosomal dominant congenital posterior polar cataract. The impact of the P20R mutation on the anti-apoptosis function remains unclear. To explore the anti-apoptotic activity of αB-crystallin wild type (αB-wt) and its P20R mutant under oxidative stress, HLE cells were transfected with αB-wt and αB-P20R constructs and expression was measured by western blotting...
December 19, 2016: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28003988/eye-pathologies-in-neonates
#9
REVIEW
Nyaish Mansoor, Tihami Mansoor, Mansoor Ahmed
In the United Kingdom, newborn assessment incorporates a screening eye examination for any structural abnormalities, observation of neonate's visual behaviour and direct ophthalmoscopy examination looking for red reflex. Early identification and immediate management of eye related pathologies should commence soon after birth as early diagnosis and prompt intervention may have significant impact on the prognosis for many potentially blinding but treatable disorders such as congenital cataracts and retinoblastoma...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28002851/prenatal-ultrasonographic-diagnosis-of-cataract-in-utero-manifestations-of-cryptic-disease
#10
Eran Ashwal, Asaf Achiron, Yinon Gilboa, Michal Berkenstadt, Mordecai Rosner, Reuven Achiron
Purpose To report and review our experience with antenatal evaluation for fetuses diagnosed with congenital cataract. Materials and Methods We retrospectively identified pregnancies diagnosed with fetal cataract during antenatal ultrasound. Evaluation of fetal eyes included intraocular anatomy and biometry. Data on fetal malformations, serology and fetal karyotype were collected. Results 8 cases, identified over the course of 10 years, were reviewed. Week 15 was the mean time for diagnosis (range 11 - 34)...
December 21, 2016: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/27998458/-the-effects-and-related-risk-factors-on-cataract-surgery-in-shandong-province
#11
H Wu, H D Huang, H S Bi, W T Cai, S M An, C B Li
Objective: To explore the efficacy and related risk factors on cataract surgery in Shandong province. Methods: A total of 108 190 cataract surgeries which were reported from 17 cities of Shandong province during January 2013 to December were reviewed. The demographic information, preoperative examination, surgery related information (including date of surgery, surgical methods, and intraoperative complications), and postoperative situations (naked eye visual acuity, curative efficacy after three days, and postoperative complications) were reviewed...
December 11, 2016: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/27993984/an-epha4-sipa1l3-wnt-pathway-regulates-eye-development-and-lens-maturation
#12
Melanie Rothe, Noreen Kanwal, Petra Dietmann, Franziska A Seigfried, Annemarie Hempel, Desiree Schütz, Dominik Reim, Rebecca Engels, Alexander Linnemann, Michael J Schmeisser, Juergen Bockmann, Michael Kühl, Tobias M Boeckers, Susanne J Kühl
The signal-induced proliferation-associated family of proteins comprises four members, SIPA1 and SIPA1L1-3. Mutations of the human SIPA1L3 gene result in congenital cataracts. In Xenopus, loss of Sipa1l3 function led to a severe eye phenotype that was distinguished by smaller eyes and lenses including lens fiber cell maturation defects. We found a direct interaction between Sipa1l3 and Epha4, building a functional platform for proper ocular development. Epha4 deficiency phenocopied loss of Sipa1l3 and rescue experiments demonstrated that Epha4 acts upstream of Sipa1l3 during eye development, with both Sipa1l3 and Epha4 required for early eye specification...
January 15, 2017: Development
https://www.readbyqxmd.com/read/27990357/a-novel-mutation-of-p-f32i-in-gja8-in-human-dominant-congenital-cataracts
#13
Feng-Tao Dang, Fa-Yu Yang, Ye-Qin Yang, Xiang-Lian Ge, Ding Chen, Liu Zhang, Xin-Ping Yu, Feng Gu, Yi-Hua Zhu
AIM: To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation. METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mutation were screened in recruited family members by polymerase chain reaction (PCR) of the two reported genes (CRYAA and GJA8) which were linked to human total cataracts and direct sequencing of the PCR product...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27981259/assessment-of-adherence-to-visual-correction-and-occlusion-therapy-in-the-infant-aphakia-treatment-study
#14
Carolyn Drews-Botsch, George Cotsonis, Marianne Celano, Scott R Lambert
Occlusion therapy throughout early childhood is believed to be efficacious in treating deprivation amblyopia but has not been rigorously assessed in clinical trials. Further, tools to assess adherence to such therapy over an extended period of time are lacking. Using data from the Infant Aphakia Treatment Study, a randomized clinical trial of treatment for unilateral congenital cataract, we examined the use of quarterly 48-hour recall interviews and annual 7-day prospective diaries to assess reported hours of patching in 114 children throughout the first 5 years of life...
August 15, 2016: Contemporary Clinical Trials Communications
https://www.readbyqxmd.com/read/27968871/global-prevalence-and-epidemiological-characteristics-of-congenital-cataract-a-systematic-review-and-meta-analysis
#15
Xiaohang Wu, Erping Long, Haotian Lin, Yizhi Liu
BACKGROUND: Congenital cataract is the primary cause of treatable childhood blindness worldwide. The establishment of reliable, epidemiological estimates is an essential first step towards development of causal and management strategies. We therefore undertook an initial systematic review and meta-analysis to estimate the global prevalence and other epidemiological characteristics of congenital cataract. METHODS: We searched PubMed, Medline, Web of Science, Embase, and Cochrane Library databases with a combination of search terms, including "congenital cataract", "prevalence", "epidemiology", "population", and "survey", up to January, 2015...
October 2016: Lancet
https://www.readbyqxmd.com/read/27968870/developmental-profile-of-ocular-refraction-in-patients-with-congenital-cataract-a-prospective-cohort-study
#16
Zhenzhen Liu, Erping Long, Jingjing Chen, Zhuoling Lin, Duoru Lin, Xiaohang Wu, Qianzhong Cao, Xiaoyan Li, Dongni Wang, Lixia Luo, Bo Qu, Runzhong Liu, Xiaopin Liu, Haotian Lin, Weirong Chen, Yizhi Liu
BACKGROUND: Refractive status is crucial to visual function and can change throughout life. For patients with congenital cataract, the developmental profile of refraction is complicated owing to the potential influence of diverse clinical manifestations and various treatments, and has not yet been fully characterised. METHODS: In this prospective cohort study, we enrolled patients with congenital cataract from the Childhood Cataract Program of the Chinese Ministry of Health (CCPMOH)...
October 2016: Lancet
https://www.readbyqxmd.com/read/27968868/timing-and-approaches-in-congenital-cataract-surgery-a-randomised-controlled-trial
#17
Weirong Chen, Erping Long, Jingjing Chen, Zhenzhen Liu, Zhuoling Lin, Qianzhong Cao, Xiaohang Wu, Qiwei Wang, Duoru Lin, Xiaoyan Li, Lixia Luo, Bo Qu, Haotian Lin, Yizhi Liu
BACKGROUND: The optimum timing of surgery and the approach that should be used during congenital cataract surgery are controversial and present challenges for paediatric cataract surgeons in China. The aim of this study was to compare visual prognoses and postoperative adverse effects of paediatric cataract surgery done at different times and using different surgical approaches. METHODS: In this prospective, randomised controlled trial, we recruited Chinese patients aged 3 months or younger who were diagnosed with bilateral diffuse or total cataracts, but who did not have coexisting ocular, systemic or neurological diseases...
October 2016: Lancet
https://www.readbyqxmd.com/read/27958602/severe-to-profound-deafness-may-be-associated-with-myh9-related-disease-report-of-4-patients
#18
P Canzi, A Pecci, M Manfrin, E Rebecchi, C Zaninetti, V Bozzi, M Benazzo
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospective study. The study population involved 147 Italian patients with MYH9-RD: hearing loss was identified in 52% of cases and only 4 patients (6%) presented severe to profound deafness at a mean age of 33 years...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27958595/childhood-neurofibromatosis-type-2-nf2-and-related-disorders-from-bench-to-bedside-and-biologically-targeted-therapies
#19
M Ruggieri, A D Praticò, A Serra, L Maiolino, S Cocuzza, P Di Mauro, L Licciardello, P Milone, G Privitera, G Belfiore, M Di Pietro, F Di Raimondo, A Romano, A Chiarenza, M Muglia, A Polizzi, D G Evans
Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27942472/cutis-tricolor-a-literature-review-and-report-of-five-new-cases
#20
Martino Ruggieri, Agata Polizzi, Carmelo Schepis, Massimiliano Morano, Serena Strano, Giuseppe Belfiore, Stefano Palmucci, Pietro Valerio Foti, Concetta Pirrone, Mario Roggini, Emanule David, Vincenzo Salpietro, Pietro Milone
BACKGROUND: Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon and today is clear that not all cases of cutis tricolor represent one single entity. This phenomenon has been reported so far either: (I) as an purely cutaneous trait; (II) as a part of a complex malformation phenotype (Ruggieri-Happle syndrome, RHS) including distinct facial features, eye (cataract), skeletal (skull and vertebral defects, and long bones dysplasia), nervous system (corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly) and systemic abnormalities; (III) as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata); and (IV) in association with other skin disturbances [e...
October 2016: Quantitative Imaging in Medicine and Surgery
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